Mediterranean Fever(MEFV)Gene-Related Enterocolitis Hiroshi Nakase 1 , Daisuke Hirayama 1 , Kohei Wagatsuma 1 , Tomoe Kazama 1 , Yoshihiro Yokoyama 1 1Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine Keyword: 家族性地中海熱 , 炎症性腸疾患 , pyrin蛋白 , IL-1β pp.1715-1722
Published Date 2019/12/25
DOI https://doi.org/10.11477/mf.1403201903
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 We are currently establishing diagnostic methods and elucidating the underlying mechanism of Mediterranean fever gene-related enteritis, i.e., interleukin 1β-related enterocolitis. The analysis of clinical characteristics of 74 patients with MEFV gene-related enterocolitis revealed that more than 70% of the patients harbored mutations in exon 2 of MEFV. Approximately 70 % of the patients had atypical presentation of familial Mediterranean fever or did not fulfill the modified Tel-Hashomer diagnostic criteria. The endoscopic examination of gastrointestinal lesions revealed that 68 % of the patients had mucosal features of ulcerative colitis-like lesions without the involvement of rectum ; some patients had longitudinal ulcers and stenosis similar to those observed in Crohn's disease. Patients with MEFV gene-related enterocolitis are likely to be more than expected among patients diagnosed with inflammatory bowel disease unclassified. Therefore, it is necessary to establish the diagnostic criteria of MEFV gene-related enterocolitis based on our current data.

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